October 17,2014. Following a visit by Olivier Lambercy, a Swiss researcher to Saguenay back in September 2012 to present research from his laboratory, we are pleased that the preliminary work has paid off. We are beginning the process of analyzing the results of its tool for the entire cohort but already the pilot results are promising.Test à Saguenay.

October 06,2014-The ARSACS research team article, under the direction of Dr. Bernard Brais, has been published in the Oxford Journals of the prestigious Oxford University. The abstract of the article“Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay”can be found in the Human Molecular Genetics.Full version.

July 27, 2014. As a follow-up to a meeting held on July 14 2014 with some Board members, the Foundation will hire a project manager as soon as possible. The project manager will be responsible to accelerate the overall drug development activities for ARSACS.

June 24, 2014. At the meeting of the Board held on 9 June in Montreal, there was discussion on the new cell model being developped and its potential use for screening large banks of therapeutic molecules. The new strategy being pursued and its first results were also discussed. These results are promising. Unfortunateluy, this new strategy and its results cannot be disclosed at this time.

The research team made a commitment to the Board to accelerate the research work by involving other experts on the team and also by exploring other national and international collaborations. The team is optimistic that the first preclinical study using mouse knockout model will be launched in 2014.

The Foundation is pleased to announce that it will fund the research of Dr. Paola Giunti (ULC Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK) under its current research funding program. Her work entitled “Design and Validation of a Custom Amplicon Panel for the Diagnosis of Spastic ARSACS and other ataxias” should contribute to diagnose ARSACS more efficiently and at lower cost. Following is a summary of the her research project.

ARSACS has been described in Europe, North Africa, Turkey, Japan and Brazil. To date genetic testing to identify ARSACS patients remains expensive, time-consuming and consequently only available in specialist or research centres in the UK. There is therefore a pressing need for a quicker, cheaper and more available diagnostic test. Dr Giunti and other groups have shown that the retinal nerve fibre layer (RNFL) as measured by optical coherence tomography (OCT) is thickened in ARSACS, in contrast to most other neurodegenerative diseases in which the RNFL is normal or thinned. Her project is to develop a custom amplicon panel for spastic ataxias that will allow the diagnosis of ARSACS and to be used in the more general diagnosis of cases of spastic ataxia. It is planned that, if successful in this validation, it should enter routine use in the Neurogenetics Laboratory of the UCL/UCLH. She will then use the above panel to assess a cohort of patients with ataxia who have already undergone OCT scanning. This will allow her team to assess the sensitivity and specificity of OCT in diagnosing ARSACS.

As previously mentioned, a meeting for drug discovery work related to the sacsin will be held in Montreal. The meeting has been scheduled for July 14, 2014. The sacsin is the protein involved in ARSACS.

A commercialization agreement of the sacsin antibody was signed between Millipore and one of the ARSACS research team members. Millipore is a large US-based company and a major distibutor of commercial antibodies. With this agreement, the Foundation expects that other new ARSACS research will be undertaken that will eventually lead to interesting results.

Dr Paul Chapple, a member of the Foundation research team located in London, has received funding from the Biotechnology and Bioscience Research Council in the UK to better understand the sacsin’s role in mitochondrial dynamics, which is an important element in ARSACS research. The funding will support a postdoctoral researcher for three years. The project is titled ” Chaperoning Drp1 mediated fission in neurons”.